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Objective:  A novel functional cis-regulatory element (CRE) located at  SNCA  intron 4 has recently been identified in association with Parkinson’s disease (PD) risk in European descendants. We aimed to investigate whether this CRE is associated with PD in Han Chinese ethnicity.   Methods:  A Chinese cohort comprising 513 sporadic PD patients and 517 controls was recruited. CRE variants were identified by sequencing and then analyzed.   Results:  A total of nine variants were detected, namely eight single nucleotide variants and one new insertion variant. Two variants, rs17016188 and rs7684892, had minor allele frequency greater than 5%. A difference of rs17016188 was observed in males with the C allele serving as a recessive risk factor ( p  = 0.001, OR = 2.349, 95% CI = 1.414–3.901) following Bonferroni correction. Haplotypes of rs17016188 and rs7684892 showed distribution differences in the total and the male populations ( p  = 0.002 and 4.08 × 10 −5 , respectively). Among the haplotypes, rs17016188/T-rs7684892/G was associated with a reduced risk for PD ( p  = 4.8 × 10 −4 , OR = 0.731, 95% CI = 0.614–0.872).   Conclusions:  Our results provide insight into how the  SNCA  intron 4 CRE harbors variants and its contribution to PD risk in Chinese ethnicity.

The cis-Regulatory Element of SNCA Intron 4 Modulates Susceptibility to Parkinson’s Disease in Han Chinese